IVIC syndrome
Findings
No curated finding names IVIC syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.
Definition from the Mondo Disease Ontology (MONDO:0007836), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Short femurHPOHP:0003097
- 8 of 8 reported patients · Childhood onset
- Hearing impairmentHPOHP:0000365
- 22 of 24 reported patients
- Very frequent (80% to 99% of cases)
- Hypoplasia of the radiusHPOHP:0002984
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- Severe short statureHPOHP:0003510
- Very frequent (80% to 99% of cases)
- StrabismusHPOHP:0000486
- 2 of 26 reported patients
- Very frequent (80% to 99% of cases)
Show the remaining 18
- Synostosis of carpal bonesHPOHP:0005048
- Frequent (30% to 79% of cases)
- Triphalangeal thumbHPOHP:0001199
- 5 of 26 reported patients
- Frequent (30% to 79% of cases)
- Carpal synostosisHPOHP:0009702
- 8 of 19 reported patients
- Anal atresiaHPOHP:0002023
- 3 of 26 reported patients
- Occasional (5% to 29% of cases)
- Aplastic clavicleHPOHP:0006660
- Occasional (5% to 29% of cases)
- ArrhythmiaHPOHP:0011675
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SALL4HGNC:15924
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: IVIC syndrome
- Also called
- oculo-oto-radial syndromeradial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia